ClinVar Miner

List of variants in gene NOTCH3 reported as likely pathogenic for cerebral arteriopathy with subcortical infarcts and leukoencephalopathy

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys) rs60373464 0.00003
NM_000435.3(NOTCH3):c.2038C>T (p.Arg680Cys) rs1250956327 0.00001
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys) rs1438626607 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys) rs1599391536
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys) rs762734007
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) rs1555730189
NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr) rs1555730188
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.1676G>A (p.Cys559Tyr) rs2145433195
NM_000435.3(NOTCH3):c.169C>T (p.Gln57Ter)
NM_000435.3(NOTCH3):c.1702T>C (p.Cys568Arg)
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys) rs754554486
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys) rs764148985
NM_000435.3(NOTCH3):c.231_248del (p.Gln77_Cys82del)
NM_000435.3(NOTCH3):c.2353C>T (p.Arg785Cys)
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly) rs1599395616
NM_000435.3(NOTCH3):c.265G>T (p.Gly89Cys)
NM_000435.3(NOTCH3):c.2701T>C (p.Cys901Arg) rs2046843049
NM_000435.3(NOTCH3):c.2815T>C (p.Cys939Arg)
NM_000435.3(NOTCH3):c.2903C>A (p.Ser968Ter)
NM_000435.3(NOTCH3):c.2953C>T (p.Arg985Cys) rs1188569102
NM_000435.3(NOTCH3):c.29_53del (p.Arg10fs)
NM_000435.3(NOTCH3):c.3009G>C (p.Trp1003Cys) rs1241704923
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) rs1599382214
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.3(NOTCH3):c.3782G>A (p.Cys1261Tyr)
NM_000435.3(NOTCH3):c.382T>C (p.Cys128Arg) rs2046934971
NM_000435.3(NOTCH3):c.3945C>G (p.Cys1315Trp)
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.398G>T (p.Arg133Leu) rs151016108
NM_000435.3(NOTCH3):c.431G>T (p.Cys144Phe)
NM_000435.3(NOTCH3):c.436T>G (p.Cys146Gly)
NM_000435.3(NOTCH3):c.458G>A (p.Arg153His)
NM_000435.3(NOTCH3):c.463T>G (p.Cys155Gly) rs2046933681
NM_000435.3(NOTCH3):c.520T>C (p.Cys174Arg) rs1599394806
NM_000435.3(NOTCH3):c.547T>C (p.Cys183Arg) rs2145441707
NM_000435.3(NOTCH3):c.555T>G (p.Cys185Trp) rs2046932414
NM_000435.3(NOTCH3):c.565T>G (p.Tyr189Asp)
NM_000435.3(NOTCH3):c.629G>A (p.Gly210Asp)
NM_000435.3(NOTCH3):c.6409_6410del (p.Leu2137fs)
NM_000435.3(NOTCH3):c.698G>A (p.Cys233Tyr) rs2145440883
NM_000435.3(NOTCH3):c.752G>T (p.Cys251Phe) rs1555729405
NM_000435.3(NOTCH3):c.779G>T (p.Cys260Phe) rs2046928618
NM_000435.3(NOTCH3):c.932G>T (p.Cys311Phe) rs1555729346
NM_000435.3(NOTCH3):c.967T>A (p.Cys323Ser) rs2145439777

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